Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disorder characterized by recurrent episodes of inflammation. It is caused by mutations in the NLRP3 gene, which leads to overproduction of interleukin-1β (IL-1β), a pro-inflammatory cytokine. CAPS encompasses a spectrum of three distinct conditions: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous articular syndrome (CINCA).
Familial Cold Autoinflammatory Syndrome (FCAS) is the mildest form of CAPS. It is characterized by recurrent episodes of rash, fever, and joint pain triggered by exposure to cold temperatures. These episodes typically last for a few hours to a few days and resolve spontaneously.
Muckle-Wells Syndrome (MWS) is an intermediate form of CAPS. In addition to cold-induced symptoms, individuals with MWS experience sensorineural hearing loss, recurrent episodes of fever, rash, joint pain, and potentially life-threatening complications such as amyloidosis.
Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCA) is the most severe form of CAPS. It presents shortly after birth with persistent inflammation affecting multiple organs, including the skin, joints, eyes, and central nervous system. NOMID/CINCA can lead to significant disability and developmental delays if left untreated.
Early diagnosis and treatment are crucial in managing CAPS. The goal of treatment is to control inflammation and prevent long-term complications. IL-1β inhibitors, such as anakinra and canakinumab, have shown significant efficacy in reducing symptoms and improving quality of life for individuals with CAPS.
In summary, Cryopyrin-associated periodic syndrome (CAPS) is an umbrella term for three related conditions: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCA). Each condition varies in severity and presents with different symptoms. Timely treatment with IL-1β inhibitors can help manage the symptoms and improve outcomes for individuals with CAPS.